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NSD1 nuclear receptor binding SET domain protein 1 [ Homo sapiens (human) ]

Gene ID: 64324, updated on 4-Oct-2020

Summary

Official Symbol
NSD1provided by HGNC
Official Full Name
nuclear receptor binding SET domain protein 1provided by HGNC
Primary source
HGNC:HGNC:14234
See related
Ensembl:ENSG00000165671 MIM:606681
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
STO; KMT3B; SOTOS; ARA267; SOTOS1
Summary
This gene encodes a protein containing a SET domain, 2 LXXLL motifs, 3 nuclear translocation signals (NLSs), 4 plant homeodomain (PHD) finger regions, and a proline-rich region. The encoded protein enhances androgen receptor (AR) transactivation, and this enhancement can be increased further in the presence of other androgen receptor associated coregulators. This protein may act as a nucleus-localized, basic transcriptional factor and also as a bifunctional transcriptional regulator. Mutations of this gene have been associated with Sotos syndrome and Weaver syndrome. One version of childhood acute myeloid leukemia is the result of a cryptic translocation with the breakpoints occurring within nuclear receptor-binding Su-var, enhancer of zeste, and trithorax domain protein 1 on chromosome 5 and nucleoporin, 98-kd on chromosome 11. Multiple transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Sep 2018]
Expression
Ubiquitous expression in testis (RPKM 4.4), thyroid (RPKM 4.3) and 25 other tissues See more
Orthologs

Genomic context

See NSD1 in Genome Data Viewer
Location:
5q35.3
Exon count:
31
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 5 NC_000005.10 (177131835..177300213)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (176560026..176727214)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene zinc finger protein 346 Neighboring gene FGFR4 5' regulatory region Neighboring gene fibroblast growth factor receptor 4 Neighboring gene ribosomal protein L21 pseudogene 60 Neighboring gene protein arginine methyltransferase 1 pseudogene 1 Neighboring gene PRELI domain containing 1 Neighboring gene RAB24, member RAS oncogene family Neighboring gene MAX dimerization protein 3

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Genetic associations for activated partial thromboplastin time and prothrombin time, their gene expression profiles, and risk of coronary artery disease.
GeneReviews: Not available
Genome-wide meta-analysis identifies new susceptibility loci for migraine.
GeneReviews: Not available
Sotos syndrome 1 Compare labs

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated (2020-07-27)

ClinGen Genome Curation Page
Haploinsufficency

Sufficient evidence for dosage pathogenicity (Last evaluated (2020-07-27)

ClinGen Genome Curation PagePubMed

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ10684, FLJ22263, FLJ44628, DKFZp666C163

Gene Ontology Provided by GOA

Function Evidence Code Pubs
RNA polymerase II proximal promoter sequence-specific DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
androgen receptor binding IDA
Inferred from Direct Assay
more info
PubMed 
chromatin binding ISS
Inferred from Sequence or Structural Similarity
more info
 
estrogen receptor binding ISS
Inferred from Sequence or Structural Similarity
more info
 
histone methyltransferase activity (H3-K36 specific) IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
histone methyltransferase activity (H3-K36 specific) IDA
Inferred from Direct Assay
more info
PubMed 
histone methyltransferase activity (H3-K36 specific) ISS
Inferred from Sequence or Structural Similarity
more info
 
histone methyltransferase activity (H4-K20 specific) ISS
Inferred from Sequence or Structural Similarity
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
retinoic acid receptor binding ISS
Inferred from Sequence or Structural Similarity
more info
 
retinoid X receptor binding ISS
Inferred from Sequence or Structural Similarity
more info
 
thyroid hormone receptor binding ISS
Inferred from Sequence or Structural Similarity
more info
 
transcription coregulator activity IDA
Inferred from Direct Assay
more info
PubMed 
transcription corepressor activity ISS
Inferred from Sequence or Structural Similarity
more info
 
zinc ion binding IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
histone H3-K36 methylation IEA
Inferred from Electronic Annotation
more info
 
histone H4-K20 methylation IEA
Inferred from Electronic Annotation
more info
 
histone methylation ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of transcription by RNA polymerase II ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of transcription, DNA-templated IDA
Inferred from Direct Assay
more info
PubMed 
regulation of RNA polymerase II regulatory region sequence-specific DNA binding IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of histone H3-K36 methylation IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of peptidyl-serine phosphorylation IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of transcription, DNA-templated IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
chromatin IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleoplasm TAS
Traceable Author Statement
more info
 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
histone-lysine N-methyltransferase, H3 lysine-36 specific
Names
H3-K36-HMTase
H4-K20-HMTase
NR-binding SET domain-containing protein
androgen receptor coactivator 267 kDa protein
androgen receptor-associated coregulator 267
androgen receptor-associated protein of 267 kDa
histone-lysine N-methyltransferase, H3 lysine-36 and H4 lysine-20 specific
lysine N-methyltransferase 3B
nuclear receptor SET domain-containing protein 1
nuclear receptor-binding SET domain-containing protein 1
truncated nuclear receptor binding SET domain protein 1
NP_001352613.1
NP_071900.2
NP_758859.1
XP_024301918.1
XP_024301919.1
XP_024301920.1
XP_024301921.1
XP_024301922.1
XP_024301923.1
XP_024301924.1
XP_024301926.1
XP_024301927.1
XP_024301928.1
XP_024301929.1
XP_024301930.1
XP_024301931.1

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_009821.1 RefSeqGene

    Range
    5001..172135
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_512

mRNA and Protein(s)

  1. NM_001365684.1NP_001352613.1  histone-lysine N-methyltransferase, H3 lysine-36 specific isoform a

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3), as well as variant 1, encodes isoform a.
    Source sequence(s)
    AC008570, AC146507, AF380302
    Related
    ENSP00000343209.4, ENST00000347982.8
    Conserved Domains (12) summary
    cd05837
    Location:50160
    MSH6_like; The PWWP domain is present in MSH6, a mismatch repair protein homologous to bacterial MutS. The PWWP domain of histone-lysine N-methyltransferase, also known as Nuclear SET domain-containing protein 3, is also included. Mutations in MSH6 have been ...
    cd05838
    Location:14851579
    WHSC1_related; The PWWP domain was first identified in the WHSC1 (Wolf-Hirschhorn syndrome candidate 1) protein, a protein implicated in Wolf-Hirschhorn syndrome (WHS). When translocated, WHSC1 plays a role in lymphoid multiple myeloma (MM) disease, also known as ...
    smart00570
    Location:16221672
    AWS; associated with SET domains
    smart00317
    Location:16731796
    SET; SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain
    cd15648
    Location:12761318
    PHD1_NSD1_2; PHD finger 1 found in nuclear receptor-binding SET domain-containing protein NSD1 and NSD2
    cd15650
    Location:13231369
    PHD2_NSD1; PHD finger 2 found in nuclear receptor-binding SET domain-containing protein 1 (NSD1)
    cd15653
    Location:13701423
    PHD3_NSD1; PHD finger 3 found in nuclear receptor-binding SET domain-containing protein 1 (NSD1)
    cd15656
    Location:14401479
    PHD4_NSD1; PHD finger 4 found in nuclear receptor-binding SET domain-containing protein 1 (NSD1)
    cd15659
    Location:18511893
    PHD5_NSD1; PHD finger 5 found in nuclear receptor-binding SET domain-containing protein 1 (NSD1)
    cl26267
    Location:11621318
    ING; Inhibitor of growth proteins N-terminal histone-binding
    cl26386
    Location:21692394
    DNA_pol3_gamma3; DNA polymerase III subunits gamma and tau domain III
    cl26464
    Location:19392305
    Atrophin-1; Atrophin-1 family
  2. NM_022455.5NP_071900.2  histone-lysine N-methyltransferase, H3 lysine-36 specific isoform b

    See identical proteins and their annotated locations for NP_071900.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2), also known as ARA267-beta, represents the longer transcript, and encodes the longer isoform b.
    Source sequence(s)
    AC008570, AC027314, AC146507
    Consensus CDS
    CCDS4412.1
    UniProtKB/Swiss-Prot
    Q96L73
    Related
    ENSP00000395929.2, ENST00000439151.6
    Conserved Domains (12) summary
    cd05837
    Location:319429
    MSH6_like; The PWWP domain is present in MSH6, a mismatch repair protein homologous to bacterial MutS. The PWWP domain of histone-lysine N-methyltransferase, also known as Nuclear SET domain-containing protein 3, is also included. Mutations in MSH6 have been ...
    cd05838
    Location:17541848
    WHSC1_related; The PWWP domain was first identified in the WHSC1 (Wolf-Hirschhorn syndrome candidate 1) protein, a protein implicated in Wolf-Hirschhorn syndrome (WHS). When translocated, WHSC1 plays a role in lymphoid multiple myeloma (MM) disease, also known as ...
    smart00570
    Location:18911941
    AWS; associated with SET domains
    smart00317
    Location:19422065
    SET; SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain
    cd15648
    Location:15451587
    PHD1_NSD1_2; PHD finger 1 found in nuclear receptor-binding SET domain-containing protein NSD1 and NSD2
    cd15650
    Location:15921638
    PHD2_NSD1; PHD finger 2 found in nuclear receptor-binding SET domain-containing protein 1 (NSD1)
    cd15653
    Location:16391692
    PHD3_NSD1; PHD finger 3 found in nuclear receptor-binding SET domain-containing protein 1 (NSD1)
    cd15656
    Location:17091748
    PHD4_NSD1; PHD finger 4 found in nuclear receptor-binding SET domain-containing protein 1 (NSD1)
    cd15659
    Location:21202162
    PHD5_NSD1; PHD finger 5 found in nuclear receptor-binding SET domain-containing protein 1 (NSD1)
    cl26267
    Location:14311587
    ING; Inhibitor of growth proteins N-terminal histone-binding
    cl26386
    Location:24382663
    DNA_pol3_gamma3; DNA polymerase III subunits gamma and tau domain III
    cl26464
    Location:22082574
    Atrophin-1; Atrophin-1 family
  3. NM_172349.3NP_758859.1  histone-lysine N-methyltransferase, H3 lysine-36 specific isoform a

    See identical proteins and their annotated locations for NP_758859.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1), also known as ARA267-alpha, differs in the 5' UTR and coding region, compared to variant 2. It encodes a shorter isoform (a), that has a distinct N-terminus compared to isoform b. Variants 1 and 3 both encode the same isoform (a).
    Source sequence(s)
    AC027314, AC146507, AF380302, AK056667, CK300021, CN333750
    Consensus CDS
    CCDS4413.1
    UniProtKB/Swiss-Prot
    Q96L73
    UniProtKB/TrEMBL
    Q96MN8
    Related
    ENSP00000346111.4, ENST00000354179.8
    Conserved Domains (12) summary
    cd05837
    Location:50160
    MSH6_like; The PWWP domain is present in MSH6, a mismatch repair protein homologous to bacterial MutS. The PWWP domain of histone-lysine N-methyltransferase, also known as Nuclear SET domain-containing protein 3, is also included. Mutations in MSH6 have been ...
    cd05838
    Location:14851579
    WHSC1_related; The PWWP domain was first identified in the WHSC1 (Wolf-Hirschhorn syndrome candidate 1) protein, a protein implicated in Wolf-Hirschhorn syndrome (WHS). When translocated, WHSC1 plays a role in lymphoid multiple myeloma (MM) disease, also known as ...
    smart00570
    Location:16221672
    AWS; associated with SET domains
    smart00317
    Location:16731796
    SET; SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain
    cd15648
    Location:12761318
    PHD1_NSD1_2; PHD finger 1 found in nuclear receptor-binding SET domain-containing protein NSD1 and NSD2
    cd15650
    Location:13231369
    PHD2_NSD1; PHD finger 2 found in nuclear receptor-binding SET domain-containing protein 1 (NSD1)
    cd15653
    Location:13701423
    PHD3_NSD1; PHD finger 3 found in nuclear receptor-binding SET domain-containing protein 1 (NSD1)
    cd15656
    Location:14401479
    PHD4_NSD1; PHD finger 4 found in nuclear receptor-binding SET domain-containing protein 1 (NSD1)
    cd15659
    Location:18511893
    PHD5_NSD1; PHD finger 5 found in nuclear receptor-binding SET domain-containing protein 1 (NSD1)
    cl26267
    Location:11621318
    ING; Inhibitor of growth proteins N-terminal histone-binding
    cl26386
    Location:21692394
    DNA_pol3_gamma3; DNA polymerase III subunits gamma and tau domain III
    cl26464
    Location:19392305
    Atrophin-1; Atrophin-1 family

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20200815

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p13 Primary Assembly

    Range
    177131835..177300213
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024446158.1XP_024301926.1  histone-lysine N-methyltransferase, H3 lysine-36 specific isoform X3

    Conserved Domains (12) summary
    cd05837
    Location:50160
    MSH6_like; The PWWP domain is present in MSH6, a mismatch repair protein homologous to bacterial MutS. The PWWP domain of histone-lysine N-methyltransferase, also known as Nuclear SET domain-containing protein 3, is also included. Mutations in MSH6 have been ...
    cd05838
    Location:14851579
    WHSC1_related; The PWWP domain was first identified in the WHSC1 (Wolf-Hirschhorn syndrome candidate 1) protein, a protein implicated in Wolf-Hirschhorn syndrome (WHS). When translocated, WHSC1 plays a role in lymphoid multiple myeloma (MM) disease, also known as ...
    smart00570
    Location:16221672
    AWS; associated with SET domains
    smart00317
    Location:16731796
    SET; SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain
    cd15648
    Location:12761318
    PHD1_NSD1_2; PHD finger 1 found in nuclear receptor-binding SET domain-containing protein NSD1 and NSD2
    cd15650
    Location:13231369
    PHD2_NSD1; PHD finger 2 found in nuclear receptor-binding SET domain-containing protein 1 (NSD1)
    cd15653
    Location:13701423
    PHD3_NSD1; PHD finger 3 found in nuclear receptor-binding SET domain-containing protein 1 (NSD1)
    cd15656
    Location:14401479
    PHD4_NSD1; PHD finger 4 found in nuclear receptor-binding SET domain-containing protein 1 (NSD1)
    cd15659
    Location:18511893
    PHD5_NSD1; PHD finger 5 found in nuclear receptor-binding SET domain-containing protein 1 (NSD1)
    cl26267
    Location:11621318
    ING; Inhibitor of growth proteins N-terminal histone-binding
    cl26386
    Location:21692394
    DNA_pol3_gamma3; DNA polymerase III subunits gamma and tau domain III
    cl26464
    Location:19392305
    Atrophin-1; Atrophin-1 family
  2. XM_024446153.1XP_024301921.1  histone-lysine N-methyltransferase, H3 lysine-36 specific isoform X1

    Conserved Domains (12) summary
    cd05837
    Location:319429
    MSH6_like; The PWWP domain is present in MSH6, a mismatch repair protein homologous to bacterial MutS. The PWWP domain of histone-lysine N-methyltransferase, also known as Nuclear SET domain-containing protein 3, is also included. Mutations in MSH6 have been ...
    cd05838
    Location:17541848
    WHSC1_related; The PWWP domain was first identified in the WHSC1 (Wolf-Hirschhorn syndrome candidate 1) protein, a protein implicated in Wolf-Hirschhorn syndrome (WHS). When translocated, WHSC1 plays a role in lymphoid multiple myeloma (MM) disease, also known as ...
    smart00570
    Location:18911941
    AWS; associated with SET domains
    smart00317
    Location:19422065
    SET; SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain
    cd15648
    Location:15451587
    PHD1_NSD1_2; PHD finger 1 found in nuclear receptor-binding SET domain-containing protein NSD1 and NSD2
    cd15650
    Location:15921638
    PHD2_NSD1; PHD finger 2 found in nuclear receptor-binding SET domain-containing protein 1 (NSD1)
    cd15653
    Location:16391692
    PHD3_NSD1; PHD finger 3 found in nuclear receptor-binding SET domain-containing protein 1 (NSD1)
    cd15656
    Location:17091748
    PHD4_NSD1; PHD finger 4 found in nuclear receptor-binding SET domain-containing protein 1 (NSD1)
    cd15659
    Location:21202162
    PHD5_NSD1; PHD finger 5 found in nuclear receptor-binding SET domain-containing protein 1 (NSD1)
    cl26267
    Location:14311587
    ING; Inhibitor of growth proteins N-terminal histone-binding
    cl26386
    Location:24382663
    DNA_pol3_gamma3; DNA polymerase III subunits gamma and tau domain III
    cl26464
    Location:22082574
    Atrophin-1; Atrophin-1 family
  3. XM_024446150.1XP_024301918.1  histone-lysine N-methyltransferase, H3 lysine-36 specific isoform X1

    Conserved Domains (12) summary
    cd05837
    Location:319429
    MSH6_like; The PWWP domain is present in MSH6, a mismatch repair protein homologous to bacterial MutS. The PWWP domain of histone-lysine N-methyltransferase, also known as Nuclear SET domain-containing protein 3, is also included. Mutations in MSH6 have been ...
    cd05838
    Location:17541848
    WHSC1_related; The PWWP domain was first identified in the WHSC1 (Wolf-Hirschhorn syndrome candidate 1) protein, a protein implicated in Wolf-Hirschhorn syndrome (WHS). When translocated, WHSC1 plays a role in lymphoid multiple myeloma (MM) disease, also known as ...
    smart00570
    Location:18911941
    AWS; associated with SET domains
    smart00317
    Location:19422065
    SET; SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain
    cd15648
    Location:15451587
    PHD1_NSD1_2; PHD finger 1 found in nuclear receptor-binding SET domain-containing protein NSD1 and NSD2
    cd15650
    Location:15921638
    PHD2_NSD1; PHD finger 2 found in nuclear receptor-binding SET domain-containing protein 1 (NSD1)
    cd15653
    Location:16391692
    PHD3_NSD1; PHD finger 3 found in nuclear receptor-binding SET domain-containing protein 1 (NSD1)
    cd15656
    Location:17091748
    PHD4_NSD1; PHD finger 4 found in nuclear receptor-binding SET domain-containing protein 1 (NSD1)
    cd15659
    Location:21202162
    PHD5_NSD1; PHD finger 5 found in nuclear receptor-binding SET domain-containing protein 1 (NSD1)
    cl26267
    Location:14311587
    ING; Inhibitor of growth proteins N-terminal histone-binding
    cl26386
    Location:24382663
    DNA_pol3_gamma3; DNA polymerase III subunits gamma and tau domain III
    cl26464
    Location:22082574
    Atrophin-1; Atrophin-1 family
  4. XM_024446152.1XP_024301920.1  histone-lysine N-methyltransferase, H3 lysine-36 specific isoform X1

    Conserved Domains (12) summary
    cd05837
    Location:319429
    MSH6_like; The PWWP domain is present in MSH6, a mismatch repair protein homologous to bacterial MutS. The PWWP domain of histone-lysine N-methyltransferase, also known as Nuclear SET domain-containing protein 3, is also included. Mutations in MSH6 have been ...
    cd05838
    Location:17541848
    WHSC1_related; The PWWP domain was first identified in the WHSC1 (Wolf-Hirschhorn syndrome candidate 1) protein, a protein implicated in Wolf-Hirschhorn syndrome (WHS). When translocated, WHSC1 plays a role in lymphoid multiple myeloma (MM) disease, also known as ...
    smart00570
    Location:18911941
    AWS; associated with SET domains
    smart00317
    Location:19422065
    SET; SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain
    cd15648
    Location:15451587
    PHD1_NSD1_2; PHD finger 1 found in nuclear receptor-binding SET domain-containing protein NSD1 and NSD2
    cd15650
    Location:15921638
    PHD2_NSD1; PHD finger 2 found in nuclear receptor-binding SET domain-containing protein 1 (NSD1)
    cd15653
    Location:16391692
    PHD3_NSD1; PHD finger 3 found in nuclear receptor-binding SET domain-containing protein 1 (NSD1)
    cd15656
    Location:17091748
    PHD4_NSD1; PHD finger 4 found in nuclear receptor-binding SET domain-containing protein 1 (NSD1)
    cd15659
    Location:21202162
    PHD5_NSD1; PHD finger 5 found in nuclear receptor-binding SET domain-containing protein 1 (NSD1)
    cl26267
    Location:14311587
    ING; Inhibitor of growth proteins N-terminal histone-binding
    cl26386
    Location:24382663
    DNA_pol3_gamma3; DNA polymerase III subunits gamma and tau domain III
    cl26464
    Location:22082574
    Atrophin-1; Atrophin-1 family
  5. XM_024446156.1XP_024301924.1  histone-lysine N-methyltransferase, H3 lysine-36 specific isoform X3

    Conserved Domains (12) summary
    cd05837
    Location:50160
    MSH6_like; The PWWP domain is present in MSH6, a mismatch repair protein homologous to bacterial MutS. The PWWP domain of histone-lysine N-methyltransferase, also known as Nuclear SET domain-containing protein 3, is also included. Mutations in MSH6 have been ...
    cd05838
    Location:14851579
    WHSC1_related; The PWWP domain was first identified in the WHSC1 (Wolf-Hirschhorn syndrome candidate 1) protein, a protein implicated in Wolf-Hirschhorn syndrome (WHS). When translocated, WHSC1 plays a role in lymphoid multiple myeloma (MM) disease, also known as ...
    smart00570
    Location:16221672
    AWS; associated with SET domains
    smart00317
    Location:16731796
    SET; SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain
    cd15648
    Location:12761318
    PHD1_NSD1_2; PHD finger 1 found in nuclear receptor-binding SET domain-containing protein NSD1 and NSD2
    cd15650
    Location:13231369
    PHD2_NSD1; PHD finger 2 found in nuclear receptor-binding SET domain-containing protein 1 (NSD1)
    cd15653
    Location:13701423
    PHD3_NSD1; PHD finger 3 found in nuclear receptor-binding SET domain-containing protein 1 (NSD1)
    cd15656
    Location:14401479
    PHD4_NSD1; PHD finger 4 found in nuclear receptor-binding SET domain-containing protein 1 (NSD1)
    cd15659
    Location:18511893
    PHD5_NSD1; PHD finger 5 found in nuclear receptor-binding SET domain-containing protein 1 (NSD1)
    cl26267
    Location:11621318
    ING; Inhibitor of growth proteins N-terminal histone-binding
    cl26386
    Location:21692394
    DNA_pol3_gamma3; DNA polymerase III subunits gamma and tau domain III
    cl26464
    Location:19392305
    Atrophin-1; Atrophin-1 family
  6. XM_024446155.1XP_024301923.1  histone-lysine N-methyltransferase, H3 lysine-36 specific isoform X3

    Conserved Domains (12) summary
    cd05837
    Location:50160
    MSH6_like; The PWWP domain is present in MSH6, a mismatch repair protein homologous to bacterial MutS. The PWWP domain of histone-lysine N-methyltransferase, also known as Nuclear SET domain-containing protein 3, is also included. Mutations in MSH6 have been ...
    cd05838
    Location:14851579
    WHSC1_related; The PWWP domain was first identified in the WHSC1 (Wolf-Hirschhorn syndrome candidate 1) protein, a protein implicated in Wolf-Hirschhorn syndrome (WHS). When translocated, WHSC1 plays a role in lymphoid multiple myeloma (MM) disease, also known as ...
    smart00570
    Location:16221672
    AWS; associated with SET domains
    smart00317
    Location:16731796
    SET; SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain
    cd15648
    Location:12761318
    PHD1_NSD1_2; PHD finger 1 found in nuclear receptor-binding SET domain-containing protein NSD1 and NSD2
    cd15650
    Location:13231369
    PHD2_NSD1; PHD finger 2 found in nuclear receptor-binding SET domain-containing protein 1 (NSD1)
    cd15653
    Location:13701423
    PHD3_NSD1; PHD finger 3 found in nuclear receptor-binding SET domain-containing protein 1 (NSD1)
    cd15656
    Location:14401479
    PHD4_NSD1; PHD finger 4 found in nuclear receptor-binding SET domain-containing protein 1 (NSD1)
    cd15659
    Location:18511893
    PHD5_NSD1; PHD finger 5 found in nuclear receptor-binding SET domain-containing protein 1 (NSD1)
    cl26267
    Location:11621318
    ING; Inhibitor of growth proteins N-terminal histone-binding
    cl26386
    Location:21692394
    DNA_pol3_gamma3; DNA polymerase III subunits gamma and tau domain III
    cl26464
    Location:19392305
    Atrophin-1; Atrophin-1 family
  7. XM_024446160.1XP_024301928.1  histone-lysine N-methyltransferase, H3 lysine-36 specific isoform X5

    Conserved Domains (5) summary
    cd05837
    Location:319429
    MSH6_like; The PWWP domain is present in MSH6, a mismatch repair protein homologous to bacterial MutS. The PWWP domain of histone-lysine N-methyltransferase, also known as Nuclear SET domain-containing protein 3, is also included. Mutations in MSH6 have been ...
    cd15648
    Location:15451587
    PHD1_NSD1_2; PHD finger 1 found in nuclear receptor-binding SET domain-containing protein NSD1 and NSD2
    cd15650
    Location:15921638
    PHD2_NSD1; PHD finger 2 found in nuclear receptor-binding SET domain-containing protein 1 (NSD1)
    cd15653
    Location:16391692
    PHD3_NSD1; PHD finger 3 found in nuclear receptor-binding SET domain-containing protein 1 (NSD1)
    cl26267
    Location:14311587
    ING; Inhibitor of growth proteins N-terminal histone-binding
  8. XM_024446161.1XP_024301929.1  histone-lysine N-methyltransferase, H3 lysine-36 specific isoform X6

    Conserved Domains (1) summary
    cd05837
    Location:319429
    MSH6_like; The PWWP domain is present in MSH6, a mismatch repair protein homologous to bacterial MutS. The PWWP domain of histone-lysine N-methyltransferase, also known as Nuclear SET domain-containing protein 3, is also included. Mutations in MSH6 have been ...
  9. XM_024446154.1XP_024301922.1  histone-lysine N-methyltransferase, H3 lysine-36 specific isoform X2

    Conserved Domains (12) summary
    cd05837
    Location:179289
    MSH6_like; The PWWP domain is present in MSH6, a mismatch repair protein homologous to bacterial MutS. The PWWP domain of histone-lysine N-methyltransferase, also known as Nuclear SET domain-containing protein 3, is also included. Mutations in MSH6 have been ...
    cd05838
    Location:16141708
    WHSC1_related; The PWWP domain was first identified in the WHSC1 (Wolf-Hirschhorn syndrome candidate 1) protein, a protein implicated in Wolf-Hirschhorn syndrome (WHS). When translocated, WHSC1 plays a role in lymphoid multiple myeloma (MM) disease, also known as ...
    smart00570
    Location:17511801
    AWS; associated with SET domains
    smart00317
    Location:18021925
    SET; SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain
    cd15648
    Location:14051447
    PHD1_NSD1_2; PHD finger 1 found in nuclear receptor-binding SET domain-containing protein NSD1 and NSD2
    cd15650
    Location:14521498
    PHD2_NSD1; PHD finger 2 found in nuclear receptor-binding SET domain-containing protein 1 (NSD1)
    cd15653
    Location:14991552
    PHD3_NSD1; PHD finger 3 found in nuclear receptor-binding SET domain-containing protein 1 (NSD1)
    cd15656
    Location:15691608
    PHD4_NSD1; PHD finger 4 found in nuclear receptor-binding SET domain-containing protein 1 (NSD1)
    cd15659
    Location:19802022
    PHD5_NSD1; PHD finger 5 found in nuclear receptor-binding SET domain-containing protein 1 (NSD1)
    cl26267
    Location:12911447
    ING; Inhibitor of growth proteins N-terminal histone-binding
    cl26386
    Location:22982523
    DNA_pol3_gamma3; DNA polymerase III subunits gamma and tau domain III
    cl26464
    Location:20682434
    Atrophin-1; Atrophin-1 family
  10. XM_024446151.1XP_024301919.1  histone-lysine N-methyltransferase, H3 lysine-36 specific isoform X1

    Conserved Domains (12) summary
    cd05837
    Location:319429
    MSH6_like; The PWWP domain is present in MSH6, a mismatch repair protein homologous to bacterial MutS. The PWWP domain of histone-lysine N-methyltransferase, also known as Nuclear SET domain-containing protein 3, is also included. Mutations in MSH6 have been ...
    cd05838
    Location:17541848
    WHSC1_related; The PWWP domain was first identified in the WHSC1 (Wolf-Hirschhorn syndrome candidate 1) protein, a protein implicated in Wolf-Hirschhorn syndrome (WHS). When translocated, WHSC1 plays a role in lymphoid multiple myeloma (MM) disease, also known as ...
    smart00570
    Location:18911941
    AWS; associated with SET domains
    smart00317
    Location:19422065
    SET; SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain
    cd15648
    Location:15451587
    PHD1_NSD1_2; PHD finger 1 found in nuclear receptor-binding SET domain-containing protein NSD1 and NSD2
    cd15650
    Location:15921638
    PHD2_NSD1; PHD finger 2 found in nuclear receptor-binding SET domain-containing protein 1 (NSD1)
    cd15653
    Location:16391692
    PHD3_NSD1; PHD finger 3 found in nuclear receptor-binding SET domain-containing protein 1 (NSD1)
    cd15656
    Location:17091748
    PHD4_NSD1; PHD finger 4 found in nuclear receptor-binding SET domain-containing protein 1 (NSD1)
    cd15659
    Location:21202162
    PHD5_NSD1; PHD finger 5 found in nuclear receptor-binding SET domain-containing protein 1 (NSD1)
    cl26267
    Location:14311587
    ING; Inhibitor of growth proteins N-terminal histone-binding
    cl26386
    Location:24382663
    DNA_pol3_gamma3; DNA polymerase III subunits gamma and tau domain III
    cl26464
    Location:22082574
    Atrophin-1; Atrophin-1 family
  11. XM_024446162.1XP_024301930.1  histone-lysine N-methyltransferase, H3 lysine-36 specific isoform X7

    Conserved Domains (11) summary
    cd05838
    Location:332426
    WHSC1_related; The PWWP domain was first identified in the WHSC1 (Wolf-Hirschhorn syndrome candidate 1) protein, a protein implicated in Wolf-Hirschhorn syndrome (WHS). When translocated, WHSC1 plays a role in lymphoid multiple myeloma (MM) disease, also known as ...
    smart00570
    Location:469519
    AWS; associated with SET domains
    smart00317
    Location:520643
    SET; SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain
    cd15648
    Location:123165
    PHD1_NSD1_2; PHD finger 1 found in nuclear receptor-binding SET domain-containing protein NSD1 and NSD2
    cd15650
    Location:170216
    PHD2_NSD1; PHD finger 2 found in nuclear receptor-binding SET domain-containing protein 1 (NSD1)
    cd15653
    Location:217270
    PHD3_NSD1; PHD finger 3 found in nuclear receptor-binding SET domain-containing protein 1 (NSD1)
    cd15659
    Location:698740
    PHD5_NSD1; PHD finger 5 found in nuclear receptor-binding SET domain-containing protein 1 (NSD1)
    pfam01141
    Location:9371004
    Gag_p12; Gag polyprotein, inner coat protein p12
    cl22851
    Location:287326
    PHD_SF; PHD finger superfamily
    cl26267
    Location:9165
    ING; Inhibitor of growth proteins N-terminal histone-binding
    cl26386
    Location:10161241
    DNA_pol3_gamma3; DNA polymerase III subunits gamma and tau domain III
  12. XM_024446159.1XP_024301927.1  histone-lysine N-methyltransferase, H3 lysine-36 specific isoform X4

    Conserved Domains (12) summary
    cd05838
    Location:14021496
    WHSC1_related; The PWWP domain was first identified in the WHSC1 (Wolf-Hirschhorn syndrome candidate 1) protein, a protein implicated in Wolf-Hirschhorn syndrome (WHS). When translocated, WHSC1 plays a role in lymphoid multiple myeloma (MM) disease, also known as ...
    smart00570
    Location:15391589
    AWS; associated with SET domains
    smart00317
    Location:15901713
    SET; SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain
    cd15648
    Location:11931235
    PHD1_NSD1_2; PHD finger 1 found in nuclear receptor-binding SET domain-containing protein NSD1 and NSD2
    cd15650
    Location:12401286
    PHD2_NSD1; PHD finger 2 found in nuclear receptor-binding SET domain-containing protein 1 (NSD1)
    cd15653
    Location:12871340
    PHD3_NSD1; PHD finger 3 found in nuclear receptor-binding SET domain-containing protein 1 (NSD1)
    cd15656
    Location:13571396
    PHD4_NSD1; PHD finger 4 found in nuclear receptor-binding SET domain-containing protein 1 (NSD1)
    cd15659
    Location:17681810
    PHD5_NSD1; PHD finger 5 found in nuclear receptor-binding SET domain-containing protein 1 (NSD1)
    cl02554
    Location:277
    PWWP; The PWWP domain, named for a conserved Pro-Trp-Trp-Pro motif, is a small domain consisting of 100-150 amino acids. The PWWP domain is found in numerous proteins that are involved in cell division, growth and differentiation. Most PWWP-domain proteins ...
    cl26267
    Location:10791235
    ING; Inhibitor of growth proteins N-terminal histone-binding
    cl26386
    Location:20862311
    DNA_pol3_gamma3; DNA polymerase III subunits gamma and tau domain III
    cl26464
    Location:18562222
    Atrophin-1; Atrophin-1 family
  13. XM_024446163.1XP_024301931.1  histone-lysine N-methyltransferase, H3 lysine-36 specific isoform X8

    Conserved Domains (9) summary
    cd05838
    Location:252346
    WHSC1_related; The PWWP domain was first identified in the WHSC1 (Wolf-Hirschhorn syndrome candidate 1) protein, a protein implicated in Wolf-Hirschhorn syndrome (WHS). When translocated, WHSC1 plays a role in lymphoid multiple myeloma (MM) disease, also known as ...
    smart00570
    Location:389439
    AWS; associated with SET domains
    smart00317
    Location:440563
    SET; SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain
    cd15648
    Location:4385
    PHD1_NSD1_2; PHD finger 1 found in nuclear receptor-binding SET domain-containing protein NSD1 and NSD2
    cd15650
    Location:90136
    PHD2_NSD1; PHD finger 2 found in nuclear receptor-binding SET domain-containing protein 1 (NSD1)
    cd15659
    Location:618660
    PHD5_NSD1; PHD finger 5 found in nuclear receptor-binding SET domain-containing protein 1 (NSD1)
    pfam01141
    Location:857924
    Gag_p12; Gag polyprotein, inner coat protein p12
    cl22851
    Location:137190
    PHD_SF; PHD finger superfamily
    cl26386
    Location:9361161
    DNA_pol3_gamma3; DNA polymerase III subunits gamma and tau domain III
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